How common is late-onset Pompe disease and limb girdle muscular dystrophy 2a in children and young people and adults treated for myalgic encephalomyelitis/chronic fatigue syndrome (ME/CFS): A cross-sectional study.

GEM Study: Prevalence of genetic diseases in ME/CFS patients

Status

Active, not recruiting

Phases

Unknown

Study type

Observational

Source

ISRCTN

Registry ID

ISRCTN12242529

Enrollment

1882

Registered

2023-04-24

Start date

2022-09-01

Completion date

Unknown

Last updated

2025-09-22

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

Myalgic Encephalomyelitis or Chronic Fatigue Syndrome (ME/CFS) Nervous System Diseases

Interventions

Current interventions as fo 03/05/2024: All data will be collected via REDCap, which is an online secure and safe platform. Participants will complete online forms to provide the following: 1. Conse

Physical Function (SF-36 physical function subscale)

pain (visual analogue scale)

Anxiety and Depression (Adults: Hospital Anxiety and Depression Scale, Children and young people: Revised Childrens Anxiety and Depression Scale). At Royal United Hospital Bath, demographic data and t

Eligibility

Sex/Gender

All

Inclusion criteria

Inclusion criteria: 1. Adults Inclusion: aged 18-70 years with a diagnosis of ME/CFS 2. CYP Inclusion: aged 8-17 years with a diagnosis of ME/CFS 3. Individuals who live in the UK

Exclusion criteria

Exclusion criteria: Recovered or unable to provide informed consent

Design outcomes

Primary

Measure	Time frame
1. Symptoms are measured via a 4-point Likert scale from 1 (all of the time) to 4 (none of the time) at baseline. 2. Fatigue is measured by the Chalder Fatigue Questionnaire which is 11 items. Participants answer these items on a 4-point Likert scale from 1 (less than usual) to 4 (much more than usual) at baseline. 3. Pain is measured using a visual analogue scale (VAS) at baseline. 4. Anxiety and depression for adults is measured by the Hospital Anxiety and Depression Scale which is 14 items. Participants answer these items on a 4-point Likert scale at baseline. 5. Anxiety and depression for children and young people is measured by the Revised Children’s Anxiety and Depression Scale which is 47 items. Participants answer these items on a 4-point Likert scale from 1 (never) to 4 (always) at baseline.	—

Measure

Time frame

1. Symptoms are measured via a 4-point Likert scale from 1 (all of the time) to 4 (none of the time) at baseline. 2. Fatigue is measured by the Chalder Fatigue Questionnaire which is 11 items. Participants answer these items on a 4-point Likert scale from 1 (less than usual) to 4 (much more than usual) at baseline. 3. Pain is measured using a visual analogue scale (VAS) at baseline. 4. Anxiety and depression for adults is measured by the Hospital Anxiety and Depression Scale which is 14 items. Participants answer these items on a 4-point Likert scale at baseline. 5. Anxiety and depression for children and young people is measured by the Revised Children’s Anxiety and Depression Scale which is 47 items. Participants answer these items on a 4-point Likert scale from 1 (never) to 4 (always) at baseline.

—

Secondary

Measure	Time frame
There are no secondary outcome measures	—

Countries

England, United Kingdom

Outcome results

None listed

Source: ISRCTN (via WHO ICTRP) · Data processed: Feb 4, 2026